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August 22, 2025The Journal of Physiology

Loss‐of‐function variants in SPTAN1 and SPTBN4 cause early‐onset hereditary myopathy

Jonathan De Winter Johanna Palmio Markus Schuelke Bjarne Udd Werner Stenzel Jonathan Baets

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Key Points

Loss-of-function variants lead to early-onset hereditary myopathy, emphasizing the role of genetics in this disease.
The study identifies crucial genetic markers, specifically variants in the SPTAN1 and SPTBN4 genes, related to myopathy.
Analysis of genetic data revealed significant associations, providing insights into hereditary myopathy mechanisms.
Findings suggest further research is needed to explore treatment options and genetic counseling for affected families.

Implication

Loss-of-function variants in SPTAN1 and SPTBN4 cause early-onset hereditary myopathy, suggesting a genetic basis for the condition.

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Cite This Study

Winter et al. (2025) studied this question.

synapsesocial.com/papers/68af55d1ad7bf08b1eadc54d https://doi.org/10.1113/jp289522

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic features2024 · 3 citations
2Functional and Molecular Characterization of New SPTLC1 Missense Variants in Patients with Hereditary Sensory and Autonomic Neuropathy Type 1 (HSAN1)2024 · 1 citations
3Characterization of novel and recurrent <i>SPTLC2</i> variants in childhood-onset amyotrophic lateral sclerosis: Insights into sphingolipid dysregulation2025 · 2 citations
4Expanding the Molecular and Pathologic Spectrum of HSPB8 Myopathy and Distal Motor Neuropathyother · 2025 · 2 citations
5Clinical and Genetic Analysis of Digenic Muscular Dystrophy due to <i>SRPK3</i> and <i>TTN</i> Variants in Two Siblingscase_series · 2024 · 2 citations

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Exome Sequencing Reveals Novel <i>TTN</i> Variants in Saudi Patients with Congenital Titinopathies2021
Diverse clinical presentation of <i>SPTBN1</i> variants: Complex versus primary attention‐deficit/hyperactivity disorder2024

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